Bibliome.ai browser hg19
Search
About
Stats
FAQ
F8 c.1997A>C ;(p.D666A)
Variant ID: X-154176089-T-G
NM_000132.3(
F8
):c.1997A>C;(p.D666A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Stabilizing interactions between D666-S1787 and T657-Y1792 at the A2-A3 interface support factor VIIIa stability in the blood clotting pathway.
Journal Of Thrombosis And Haemostasis : Jth
Monaghan, M M; Wakabayashi, H H; Griffiths, A E AE; Fay, P J PJ
Publication Date: 2016-05
Variant appearance in text: FVIII: D666A
PubMed Link:
26878264
Variant Present in the following documents:
Main text
View BVdb publication page
Structural investigation of zymogenic and activated forms of human blood coagulation factor VIII: a computational molecular dynamics study.
Bmc Structural Biology
Venkateswarlu, Divi D
Publication Date: 2010-02-25
Variant appearance in text: FVIII: Asp666Ala
PubMed Link:
20184747
Variant Present in the following documents:
Main text
1472-6807-10-7.pdf
View BVdb publication page